NM_000053.4(ATP7B):c.3412+292A>G
|
rs3783240
|
0.70499
|
NM_000053.4(ATP7B):c.1544-53A>C
|
rs2147363
|
0.69725
|
NM_000053.4(ATP7B):c.2356-217G>A
|
rs752569
|
0.57418
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.3699+299G>A
|
rs1924608
|
0.56900
|
NM_000053.4(ATP7B):c.3243+290G>A
|
rs4943044
|
0.56747
|
NM_000053.4(ATP7B):c.4021+50G>C
|
rs9535795
|
0.56559
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000053.4(ATP7B):c.1870-217A>G
|
rs9316562
|
0.54480
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000053.4(ATP7B):c.4022-329C>T
|
rs2282058
|
0.52634
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000053.4(ATP7B):c.1285+287G>A
|
rs1951922
|
0.41243
|
NM_000053.4(ATP7B):c.1286-256T>C
|
rs3825527
|
0.40531
|
NM_000053.4(ATP7B):c.1286-93A>C
|
rs3742288
|
0.40483
|
NM_000053.4(ATP7B):c.2356-296A>G
|
rs752570
|
0.36981
|
NM_000053.4(ATP7B):c.2447+289G>T
|
rs3825526
|
0.35501
|
NM_000053.4(ATP7B):c.2866-90G>T
|
rs2296246
|
0.35437
|
NM_000053.4(ATP7B):c.2448-25G>A
|
rs9526811
|
0.35419
|
NM_000053.4(ATP7B):c.1870-65G>A
|
rs9535809
|
0.18440
|
NM_000053.4(ATP7B):c.3244-219A>G
|
rs60579905
|
0.11078
|
NM_000053.4(ATP7B):c.2866-13G>C
|
rs7325983
|
0.10642
|
NM_000053.4(ATP7B):c.2866-105G>A
|
rs41292784
|
0.08370
|
NM_000053.4(ATP7B):c.3557-95A>G
|
rs9526808
|
0.06465
|
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
|
rs1801246
|
0.04852
|
NM_000053.4(ATP7B):c.51+110G>A
|
rs61958788
|
0.04081
|
NM_000053.4(ATP7B):c.3557-308C>T
|
rs9526809
|
0.04027
|
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)
|
rs1801247
|
0.04023
|
NM_000053.4(ATP7B):c.3243+183_3243+184insGCC
|
rs879917441
|
0.03930
|
NM_000053.4(ATP7B):c.3243+173_3243+175del
|
rs879462650
|
0.03921
|
NM_000053.4(ATP7B):c.3243+179A>C
|
rs557154208
|
0.03920
|
NM_000053.4(ATP7B):c.*190C>A
|
rs115420019
|
0.03241
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_000053.4(ATP7B):c.1286-92A>G
|
rs74087029
|
0.02273
|
NM_000053.4(ATP7B):c.52-306C>T
|
rs17479855
|
0.02262
|
NM_000053.4(ATP7B):c.2121+127C>A
|
rs78021873
|
0.01692
|
NM_000053.4(ATP7B):c.1543+51G>A
|
rs151202111
|
0.01480
|
NM_000053.4(ATP7B):c.4124+278T>A
|
rs74404993
|
0.01455
|
NM_000053.4(ATP7B):c.1946+153T>C
|
rs74087020
|
0.01334
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000053.4(ATP7B):c.2122-158G>A
|
rs116947713
|
0.01200
|
NM_000053.4(ATP7B):c.1544-304C>T
|
rs116389198
|
0.01191
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)
|
rs59120265
|
0.01110
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
NM_000053.4(ATP7B):c.1544-142A>G
|
rs78699520
|
0.00964
|
NM_000053.4(ATP7B):c.3061-290G>C
|
rs146828977
|
0.00765
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_000053.4(ATP7B):c.3060+291A>T
|
rs75816432
|
0.00729
|
NM_000053.4(ATP7B):c.2865+249G>A
|
rs67645093
|
0.00666
|
NM_000053.4(ATP7B):c.3556+254A>G
|
rs114578653
|
0.00594
|
NM_000053.4(ATP7B):c.2122-284del
|
rs150368560
|
0.00591
|
NM_000053.4(ATP7B):c.3557-31G>T
|
rs74085875
|
0.00585
|
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)
|
rs187200982
|
0.00499
|
NM_000053.4(ATP7B):c.*15C>T
|
rs73498144
|
0.00493
|
NM_000053.4(ATP7B):c.4125-209C>G
|
rs9591440
|
0.00490
|
NM_000053.4(ATP7B):c.1946+92G>A
|
rs141924296
|
0.00487
|
NM_000053.4(ATP7B):c.1286-153C>T
|
rs74087030
|
0.00443
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
NM_000053.4(ATP7B):c.3060+63A>T
|
rs74085885
|
0.00433
|
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)
|
rs74085888
|
0.00430
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_000053.4(ATP7B):c.4021+107G>A
|
rs144518699
|
0.00426
|
NM_000053.4(ATP7B):c.2448-145G>A
|
rs74085897
|
0.00414
|
NM_000053.4(ATP7B):c.4125-70A>G
|
rs74085865
|
0.00407
|
NM_000053.4(ATP7B):c.3244-109C>T
|
rs149218548
|
0.00401
|
NM_000053.4(ATP7B):c.3557-316A>G
|
rs11841731
|
0.00401
|
NM_000053.4(ATP7B):c.*148C>T
|
rs111901413
|
0.00362
|
NM_000053.4(ATP7B):c.2448-208G>A
|
rs112688647
|
0.00362
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_000053.4(ATP7B):c.3060+16G>T
|
rs76163470
|
0.00196
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000053.4(ATP7B):c.2447+104G>T
|
rs192166380
|
0.00182
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000053.4(ATP7B):c.3243+82C>T
|
rs370019033
|
0.00144
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)
|
rs377267217
|
0.00076
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
|
rs199875471
|
0.00041
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)
|
rs80145681
|
0.00037
|
NM_000053.4(ATP7B):c.2448-11G>A
|
rs200450017
|
0.00034
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=)
|
rs150018860
|
0.00016
|
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly)
|
rs777096464
|
0.00016
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
NM_000053.4(ATP7B):c.1544-12T>C
|
rs201167060
|
0.00013
|
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)
|
rs145887771
|
0.00012
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=)
|
rs370476756
|
0.00011
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00010
|
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val)
|
rs371458882
|
0.00010
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00009
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)
|
rs373102009
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
|
rs200605351
|
0.00009
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val)
|
rs367855110
|
0.00007
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys)
|
rs774102085
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)
|
rs550565277
|
0.00006
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)
|
rs377586515
|
0.00006
|
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)
|
rs751920801
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000053.4(ATP7B):c.4022-19C>T
|
rs369736734
|
0.00006
|
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)
|
rs373762572
|
0.00006
|
NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe)
|
rs745909234
|
0.00006
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000053.4(ATP7B):c.2196C>T (p.Leu732=)
|
rs201213995
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00005
|
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile)
|
rs771501259
|
0.00005
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met)
|
rs370713752
|
0.00004
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr)
|
rs578173224
|
0.00003
|
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met)
|
rs757716093
|
0.00003
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.2901del (p.Ile968fs)
|
rs1064796054
|
0.00003
|
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=)
|
rs200656411
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr)
|
rs758025913
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)
|
rs121907999
|
0.00003
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
NM_000053.4(ATP7B):c.1215C>T (p.Pro405=)
|
rs201020290
|
0.00002
|
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=)
|
rs142187604
|
0.00002
|
NM_000053.4(ATP7B):c.2866-21C>T
|
rs763362019
|
0.00002
|
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=)
|
rs200656411
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg)
|
rs1314321927
|
0.00002
|
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly)
|
rs752745159
|
0.00001
|
NM_000053.4(ATP7B):c.1708-14A>G
|
rs751612293
|
0.00001
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=)
|
rs1274947728
|
0.00001
|
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile)
|
rs749972036
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)
|
rs768671894
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val)
|
rs776490710
|
0.00001
|
NM_000053.4(ATP7B):c.3118A>C (p.Met1040Leu)
|
rs1957515922
|
0.00001
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3556+20T>G
|
rs765755993
|
0.00001
|
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val)
|
rs745679410
|
0.00001
|
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)
|
rs193922108
|
0.00001
|
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)
|
rs1131691741
|
0.00001
|
NM_000053.4(ATP7B):c.4021+3A>G
|
rs565970531
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.51+13C>T
|
rs770273498
|
0.00001
|
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)
|
rs1412593296
|
0.00001
|
NM_000053.4(ATP7B):c.1041C>T (p.Gly347=)
|
rs1453094974
|
|
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)
|
rs778490238
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)
|
rs1801243
|
|
NM_000053.4(ATP7B):c.1428A>G (p.Ala476=)
|
rs914451059
|
|
NM_000053.4(ATP7B):c.1544-257del
|
rs201291586
|
|
NM_000053.4(ATP7B):c.1544-263_1544-257del
|
rs201291586
|
|
NM_000053.4(ATP7B):c.1676A>G (p.Tyr559Cys)
|
rs1266694873
|
|
NM_000053.4(ATP7B):c.1707+98G>A
|
rs77703666
|
|
NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr)
|
rs756435919
|
|
NM_000053.4(ATP7B):c.1947-15G>T
|
rs1555291926
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
NM_000053.4(ATP7B):c.2040G>C (p.Gln680His)
|
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2355+89A>G
|
rs146708261
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2576-30A>G
|
rs2281814
|
|
NM_000053.4(ATP7B):c.2604del (p.Gly869fs)
|
rs1957904411
|
|
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)
|
rs778163447
|
|
NM_000053.4(ATP7B):c.2957C>G (p.Ser986Cys)
|
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3209C>G (p.Pro1070Arg)
|
|
|
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
|
rs1022670769
|
|
NM_000053.4(ATP7B):c.3360G>A (p.Leu1120=)
|
rs1555285820
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
|
|
|
NM_000053.4(ATP7B):c.3413-231C>T
|
rs147443964
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3632G>A (p.Ser1211Asn)
|
rs1157344488
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=)
|
rs1253901147
|
|
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
|
|
|
NM_000053.4(ATP7B):c.367G>T (p.Ala123Ser)
|
rs758769928
|
|
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)
|
rs1057517384
|
|
NM_000053.4(ATP7B):c.399del (p.Trp133fs)
|
rs1345848733
|
|
NM_000053.4(ATP7B):c.4021+122dup
|
rs57778802
|
|
NM_000053.4(ATP7B):c.4021+135_4021+136del
|
rs57778802
|
|
NM_000053.4(ATP7B):c.4021+136del
|
rs57778802
|
|
NM_000053.4(ATP7B):c.4022-158G>C
|
rs74085867
|
|
NM_000053.4(ATP7B):c.4022-159G>C
|
rs2282059
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.4125-19T>C
|
rs1228043161
|
|
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)
|
rs886041336
|
|
NM_000053.4(ATP7B):c.419C>T (p.Ala140Val)
|
|
|
NM_000053.4(ATP7B):c.51+15C>G
|
rs781757171
|
|
NM_000053.4(ATP7B):c.52-208_52-205del
|
rs201539631
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs)
|
rs1023530194
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
|
rs1566598496
|
|